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  • Title: Klippel-Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review.
    Author: Pavone P, Marino L, Cacciaguerra G, Di Nora A, Parano E, Musumeci G, Ruggieri M, Polizzi A, Falsaperla R.
    Journal: Children (Basel); 2023 Aug 21; 10(8):. PubMed ID: 37628420.
    Abstract:
    Klippel-Trenaunay syndrome is an uncommon, infrequent, congenital disorder characterized by a triad of capillary malformation, varicosities, and tissue and bone hypertrophy. The presence of two of these three signs is enough to obtain the diagnosis. Capillary malformations are usually present at birth, whereas venous varicosities and limb hypertrophy become more evident later. The syndrome has usually a benign course, but serious complications involving various organs, such as gastrointestinal and genitourinary organs, as well as the central nervous system, may be observed. Recently, Klippel-Trenaunay syndrome has been included in the group of PIK3CA-related overgrowth spectrum (PROS) disorders. In terms of this disorder, new results in etiopathogenesis and in modalities of treatment have been advanced. We report here a review of the recent genetic findings, the main clinical characteristics and related severe complications, differential diagnoses with a similar disorder, and the management of patients with this complex and uncommon syndrome.
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